KIF1B, kinesin family member 1B, 23095

N. diseases: 213; N. variants: 16
Disease: Axonal neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE This CMT2A cohort study will be useful for molecular diagnosis and treatment of axonal neuropathy. 24863639 2015
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 GeneticVariation disease BEFREE Exome sequencing and linkage analysis were utilized to investigate a large Taiwanese family with a dominantly inherited adult-onset motor and sensory axonal neuropathy in which mutations in common CMT2-implicated genes had been previously excluded. 25098539 2014
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 GeneticVariation disease BEFREE Recognition that mutations in MT-ATP6 cause CMT2 enhances current understanding of the pathogenic basis of axonal neuropathy. 22933740 2012
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE Our results suggest that the sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A may contribute to the pathophysiology of the axonal neuropathy. 17444508 2007
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 GeneticVariation disease BEFREE Axonal neuropathy linked to the CMT2A locus was originally associated with a mutation in the KIF1B gene. 16043786 2005
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. 11345007 2001
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. 10219749 1999
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 GeneticVariation disease BEFREE Charcot-Marie-Tooth neuropathy type 2 (CMT2) is a common inherited axonal neuropathy. 8614538 1996
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 GeneticVariation disease BEFREE CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. 7573046 1995
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE Charcot-Marie-Tooth neuropathy type II (CMT2) is an axonal neuropathy, also of undetermined cause. 7849745 1994
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.100 Biomarker disease BEFREE CMT2 is an axonal neuropathy of undetermined cause. 7804455 1994